BST1
Chr 4bone marrow stromal cell antigen 1
Also known as: CD157, cADPR2
BST1 encodes bone marrow stromal cell antigen-1, which catalyzes the synthesis and hydrolysis of cyclic ADP-ribose from NAD+, serving as a second messenger that regulates intracellular calcium mobilization and facilitates pre-B-cell growth. Mutations cause autosomal recessive early-onset Parkinson disease, representing a rare monogenic form of parkinsonism in children and young adults. The gene shows minimal constraint against loss-of-function variants (pLI near zero), consistent with recessive inheritance where heterozygous carriers are typically unaffected.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
The highest-scoring mechanism for this gene is gain-of-function.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
BST1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools